Results 11 to 20 of about 12,645 (222)

Cobalamin and folate status in 6 to 35 months old children presenting with acute diarrhea in Bhaktapur, Nepal. [PDF]

PLoS ONE, 2014
BackgroundCobalamin and folate are essential micronutrients and are important in DNA and RNA synthesis, cell proliferation, growth, hematopoiesis, and cognitive function.
Manjeswori Ulak, Ram K Chandyo, Ramesh K Adhikari, Pushpa R Sharma, Halvor Sommerfelt, Helga Refsum, Tor A Strand   +6 more
doaj   +4 more sources

Methylmalonic Acid, an Aging-Associated Metabolite, Accelerates Intervertebral Disc Degeneration by Inducing Disc Vascularization via the CCL7/JAK2-STAT3/VEGF Signaling Axis. [PDF]

Aging Cell
Our study reveals that elevated MMA in aged intervertebral discs promotes degeneration by activating the CCL7/JAK2‐STAT3/VEGF signaling axis, which drives pathological vascularization. Therapeutically, the VEGFR inhibitor lenvatinib attenuated this process, identifying disc vascularization as a promising therapeutic target for IVDD.
Jin Y, Zhou R, Wang X, Liu H, Zhao X, Jing D, Zhao B.   +6 more
europepmc   +2 more sources

External quality assessment of urinary methylmalonic acid quantification - results of a pilot study [PDF]

, 2007
This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work noncommercially, and license their derivative ...
Klee GG, Magera MJ, Matchar DB, Moller J, Rasmussen K, Rasmussen K   +5 more
core   +5 more sources

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

Children, 2021
Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome.
Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano   +11 more
doaj   +1 more source

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

JIMD Reports, 2021
Methylmalonyl‐CoA mutase (MMUT) is part of the propionyl‐CoA catabolic pathway, responsible for the breakdown of branched‐chain amino acids, odd‐chain fatty acids and the side‐chain of cholesterol.
Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R. Baumgartner, D. Sean Froese   +5 more
doaj   +1 more source

Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]

, 2017
Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
core   +3 more sources

The relationship between exacerbated diabetic peripheral neuropathy and metformin treatment in type 2 diabetes mellitus

Scientific Reports, 2021
Metformin-treated diabetics (MTD) showed a decrease in cobalamin, a rise in homocysteine, and methylmalonic acid, leading to accentuated diabetic peripheral neuropathy (DPN). This study aimed to determine whether or not metformin is a risk factor for DPN.
Manal Mohammed Hashem, Ahmed Esmael, Abdelfattah Kasem Nassar, Mohammed El-Sherif   +3 more
doaj   +1 more source

An on-line solid phase extraction procedure for the routine quantification of urinary methylmalonic acid by liquid chromatography-tandem mass spectrometry [PDF]

, 2010
Background: The goal of this study was to develop and to validate an improved isotope-dilution-liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of methylmalonic acid (MMA) in urine.
Bolann BJ, Klee GG, Kushnir MM, Magera M, Rasmussen K   +4 more
core   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Frontiers in Neurology, 2023
IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
doaj   +1 more source